Gaucher disease is an autosomal recessive hereditary lysosomal storage disorder. Occurrence of the disease is due to a hereditary deficiency of the Glucocerebrosidase, a lysosomal enzyme which divides Glucocerebroside in to Glucose and Ceramides.

For the development of the new biomarkers using the technique of Mass-spectometry 5ml EDTA blood and a dry blood spot filter card are taken. To proof the correct Gaucher diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Gaucher will be done. The analyses are done in the Albrecht-Kossel-Institute for Neuroregeneration (AKos), POB 100 888, Gehlsheimer Str. 20, 18055 Rostock (Germany)

Patients from the first day of life with Gaucher Disease based on biochemical and/or genetic criteria or high-grade suspicion for Gaucher disease.

Detailed Description:

The unmetabolised Glucocerebrosides are stored throughout the whole reticulo-endothelial system. Accumulation of Glycolipid-enriched Macrophages establishes a pathoanatomical phenomenon, the so-called Gaucher cells, which can be verified by light microscopy. Activation markers of the Macrophages, like the enzyme Chitotriosidase or CCL18, are parameters which follow the course of Gaucher dis-ease. Gaucher disease is the most frequently inherited Sphingolipidosis in the general population, and in Ahskenazi Jews, in who the prevalence is much higher (1:450). The gene which codes the Glucocerebrosidase is on the long arm of chromosome 1 and covers 11 exons. So far, more than 200 different mutations in Gaucher patients have been described, mostly missense mutations. In addition frame-shift- and splice-site-mutations have been detected, as well as insertions and deletions. More frequent mutations are N370S, L444P, IVS2+1G>A, c.84insG, R463C and R496H [Sidransky E. 2004]. The clinical appearance is heterogeneous. The classical phenotype is characterized by visceral organ (Hepatosplenomegaly) and skeleton system (Bone marrow infiltrates up to bone infarcts and pathological fractures) affection. Moreover, consecutive blood cell count changes, Anemia and Thrombocytopenia are reported.A serious distinction lies in the appearance of neurological manifestations (myoclonus epilepsy, hydrocephalus, ocular movement disturbances). There is discussion on whether the classification into the typical three disease types (type1: non-neuronopathic progress form, type2: acute neuronopathic progress form, type3: chronic neuronopathic progress form) is still up-to-date, since it does not sufficiently reflect the reality of the clinical presentation. A clear genotype-phenotype relationship does not exist. The same DNA mutations are detected in patients with pronounced differences in disease progression. The exception is the mutation N370S, which has so far been detected in connection with only visceral progress forms (type1) [Koprivica et al. 2000]. At least the outcome of the non-neuronopathic disorder cases could be improved by the introduction and general availability of enzyme therapy. Under this kind of therapy there is a reduction of liver and spleen size as well as a normalization of the haemogram parameters.

New methods, like mass-spectrometry give a good chance to characterize in the blood (plasma) of affected patents specific metabolic alterations that allow to diagnose in the future the disease earlier, with a higher sensitivity and specificity. The development of new bio-chemical markers from the plasma of the affected patients is the goal of the study.

Eligibility

Genders Eligible for Study:

Both

Accepts Healthy Volunteers:

No

Sampling Method:

Probability Sample

Study Population

Patients with Gaucher Disease based on biochemical and/or genetic criteria or high-grade suspicion for Gaucher disease.

Criteria

Inclusion Criteria:

Informed consent will be obtained from the patient or the parents before any study related procedures.

Patients from the first day of life

The patient has a diagnosis of Gaucher Disease based on biochemical and/or genetic criteria or high-grade suspicion for Gaucher disease

High-grade suspicion present, if one or more inclusion criteria are valid:

No Informed consent from the patient or the parents before any study related procedures

No diagnosis of Gaucher disease or no valid criteria for profound suspicion of Gaucher disease

Contacts and Locations

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Please refer to this study by its ClinicalTrials.gov identifier: NCT01331642